A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988574



Internal ID12628763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91896422..92083222hg38UCSC Ensembl
Innerchr1:92361979..92548779hg19UCSC Ensembl
Innerchr1:92134567..92321367hg18UCSC Ensembl
Innerchr1:92074000..92260800hg17UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38186801
hg19186801
hg18186801
hg17186801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750842
Supporting Variants
SamplesBEC_583
Known GenesBRDT, BTBD8, EPHX4, TGFBR3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988574
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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